ABSTRACT
The purpose of this work was to assess the re-arrangement of RAR-alpha and pml genes in a group of patients with acute promyelocytic leukaemia (APL) in different stages of the disease. Twenty-two patients with APL were studied. Of them, 17 were at the onset and 5 had achieved already complete haematological remission (CR). Evolutive post-remission studies were performed in 8 cases. The cytogenetic analysis was carried out at diagnosis by means of the G-band technique in 14 patients. The molecular study of RAR-alpha and pml genes was made with the Southern method. The common anomaly, t(15;17) was present in 7 of the 9 cases with evaluable metaphases (78%), in one case a 17q+ was the only cytogenetic alteration and another patient had normal karyotype. The molecular study showed re-arrangement of one or both genes involved in the translocation in the 17 patients studied at the onset of the APL. Those patients studied only in CR showed a germinal configuration. Rearrangement bands reappeared in 3 of the 8 patients evaluated along their clinical course. These results are in concordance with previous studies, in which re-arrangement of RAR-alpha and pml genes had been found in APL, despite there are instances in which no cytogenetic anomalies are found; this confirms the interest of molecular studies in the diagnosis and follow-up of APL patients.
Subject(s)
Gene Rearrangement/genetics , Leukemia, Promyelocytic, Acute/genetics , Neoplasm Proteins , Nuclear Proteins , Receptors, Retinoic Acid/genetics , Transcription Factors/genetics , Female , Humans , Karyotyping , Male , Promyelocytic Leukemia Protein , Retinoic Acid Receptor alpha , Tumor Suppressor ProteinsABSTRACT
Se estudian 15 pacientes S/ߺ-talasemicos atendidos en el Instituto de Hematología e Inmunología y se comparan las manifestaciones clínicas, los hallazgos al examen físico y los valores hematológicos con un grupo de enfermos con anemia drepanocítica (AD) de edad y sexo similares. Se expresa que el cuadro clínico de esta hemoglobinopatía es muy semejante al de la AD. Se informa que la esplenomegalia es un hecho frecuente al examen físico. Se indica que los valores hematológicos son también semejantes, aunque los niveles de hemoglobina resultan más elevados y el número de drepanocitos irreversibles es menor que en la AD. Se señala que el cuadro clínico y hematológico de esta hemoglobinopatía en nuestro país es similar al descrito en otras partes del mundo (AU)
Subject(s)
Anemia, Sickle Cell/diagnosis , Thalassemia/diagnosisABSTRACT
Se estudian los genes alfa mediante un análisis directo del ADN con enzimas de restricción de 44 sujetos no blancos. Se expresa que la frecuencia del portador silente de alfa-talasemia es del 22,7 y la frecuencia del haplotipo (-alfa) es de 0,114 (AU)
